About Down syndrome

    Down syndrome
    Overview of Down syndrome

    Down syndrome is one of the maximum not unusualplace genetic problems visible in kids.
    It takes place while the kid is born with a further chromosome.
    Chromosomes are thread-like systems discovered in each mobileular of the frame.
    They convey hereditary facts withinside the shape of genetic codes.
    The presence of a further chromosome in a infant can have an effect on the improvement of the infant's frame and brain, main to beginning defects, gaining knowledge of issues, and atypical facial capabilities.

    The danger of a infant being born with Down syndrome is barely excessive in girls who conceive at or after 35 years.
    A 35-year-vintage lady has a 1 in 350 hazard of conceiving a infant with Down syndrome.
    Routine antenatal (being pregnant-associated) screening exams can assist discover the situation early withinside the being pregnant (first trimester).

    Down syndrome is a lifelong situation.
    Currently, there aren't anyt any authorized drugs to be had for its remedy.
    Medical remedy is pushed symptomatically primarily based totally at the comorbidities affecting the individual.
    This allows to enhance the high-satisfactory of existence and additionally allows growth existence expectancy of the person.

    Facts about Down syndrome

    Usually visible in
    Children underneath 6 months of age
    Gender affected
    Both guys and girls
    Body component(s) involved
    Heart
    Large intestine
    Small intestine
    Bones
    Joints
    Eyes
    Ears
    Blood




    Prevalence
    Worldwide: 1 in a thousand toddlers (2015)
    Mimicking Conditions
    Congenital hypothyroidism
    Trisomy 18
    Partial Trisomy 21 (or 21q duplication)


    Necessary fitness exams/imaging
    USG Foetal Well Being (7-10 weeks)
    Antenatal Profile Comprehensive
    Chromosome Analysis, Chorionic villus
    Echocardiography
    Thyroid Profile Total
    Vitamin D (25-OH)
    USG Whole Abdomen
    Complete Blood Count (CBC)
    Amniocentesis

    Specialist to seek advice from

    Child Specialist Pediatric Cardiologist Pediatric NeUrologist
    Bone & Joint Specialist Gastroenterologist
    Genetic Counsellor Physiotherapist Occupational Therapist Related NGOs
    Down Syndrome Federation of India Udaan Amrit Foundation of India

    Symptoms of Down syndrome

    Usually, Down syndrome in a infant is recognized prenatally (whilst the infant is withinside the womb) thru being pregnant screening exams.
    It is likewise feasible that the physician can also additionally suspect a case of Down syndrome at beginning or at some point of follow-up visits because of the feature bodily look that takes place with the situation.

    1. Characteristic bodily look
    Individuals who've Down syndrome have awesome facial capabilities, inclusive of:
    A flattened face with a sticking out tongue (tongue protruding of the mouth) A small head and a quick neck Upward slanting eyelids and tiny white spots on the coloured component (iris) of the attention Unusually fashioned small ears Other feature bodily appearances include - Short stature Broad, small arms and tiny palms with a unmarried crease withinside the palm Excessive flexibility Poor muscle tone Along with the myriad of feature bodily appearances, kids with Down syndrome additionally be afflicted by highbrow and developmental disabilities and can increase different fitness-associated comorbidities.

    2. Intellectual disabilities Most kids with Down syndrome have impaired cognitive feature, decreased intelligence, bad memory, and language difficulties.

    3. Developmental disabilities Children with Down syndrome frequently face problem in accomplishing bodily and developmental milestones, inclusive of crawling, gaining knowledge of to walk, preserving objects, etc.

    four.
    Cardiac abnormalities Congenital coronary heart defects, inclusive of atrioventricular septal illness and Fallot's tetralogy, are fairly everyday in toddlers with Down syndrome.
    These defects may be a full-size reason of morbidity and mortality.

    5. Gastrointestinal tract abnormalities Babies born with Down syndrome are greater susceptible to structural abnormalities of the intestine, inclusive of intestinal obstruction, and related sicknesses inclusive of GERD (gastroesophageal reflux disorder).

    6. Hematologic abnormalities Newborn toddlers with Down syndrome have atypical blood counts in the first few months of existence.
    However, such situations aren't very excessive and solve inside 3-four weeks of existence.
    Patients with Down syndrome have a 10-fold better danger of growing leukemia.

    7. Neurologic abnormalities Reduced muscle tone is a feature neurologic abnormality of sufferers with Down syndrome.
    They also are greater susceptible to seizures and early-onset Alzheimer's disorder.

    8. Hormonal imbalance Hypothyroidism is not unusualplace in sufferers with Down syndrome.
    It can also additionally reason postpone withinside the onset of puberty.
    Sexual improvement with age may get affected or not on time in kids with this situation.

    9. Vision abnormalities Changes in the attention and imaginative and prescient, inclusive of refractive errors, cataracts, retinal anomalies, are very not unusualplace in kids with Down syndrome.

    Down syndrome

    Types of Down syndrome

    There are 3 specific varieties of Down syndrome:
    1. Trisomy In trisomy type, each mobileular withinside the frame has 3 copies of chromosome no.
    21 rather than .
    This is the maximum not unusualplace kind of Down syndrome.

    2. Translocation In the translocation type, every mobileular has a component or whole greater chromosome 21 that's connected to different chromosomes.

    3. Mosaic In this type, only a few of the cells have a further chromosome 21. This is a unprecedented type.

    Causes of Down syndrome

    It is precipitated because of a gene mutation in a chromosome.
    Both dad and mom make a contribution one every to shape a unmarried pair of chromosomes in a infant, which creates the specific genetic code of a infant.
    However, because of sure maternal or environmental factors, chromosomes can also additionally mutate and the infant may be born with a further replica of chromosome 21.
    Chromosomes are a package deal of genes which can be inherited through the kid from its mother and father.
    Chromosomes are available pairs, and our frame desires simply the proper quantity of pairs for the improvement of the frame.
    There are 23 pairs of chromosomes in all wholesome people.
    It is because of this greater replica of chromosome 21 that a infant develops the feature bodily and developmental issues related to Down syndrome.

    Risk Factors of Down syndrome

    The danger of a infant being born with Down syndrome is relatively excessive: In girls who conceive at or after 35 years of age.
    The hazard of conceiving a infant with Down syndrome is 1 in 350 for a lady of age 35 years.
    The danger can also additionally growth with the growth withinside the age of the mother.
    With growing father's age.
    There is likewise a unprecedented opportunity that a discern can be a provider of the gene and byskip it to their offspring.
    This situation is called translocation Down syndrome.
    In mother and father who have already got one infant with Down syndrome.
    They can be at a extra danger of getting greater kids with the identical situation.

    If a person withinside the near own circle of relatives has Down syndrome.

    Diagnosis of Down syndrome

    Broadly, there are
    varieties of exams to test for Down syndrome - Screening Tests and Diagnostic Tests.

    1. Screening exams These are frequently a aggregate of blood exams and ultrasound achieved to decide the danger of a infant being born with Down syndrome.

    USG Foetal Well Being (7-10 weeks) - This can assist become aware of any choppy or atypical structural modifications withinside the fetus, which can be feature capabilities to become aware of Down syndrome.
    The ultrasound is typically achieved at some point of the primary trimester.
    Antenatal Profile Comprehensive - This consists of a hard and fast of habitual blood exams that degree numerous parameters and, while used together with ultrasound imaging, can assist display for fetal abnormalities.

    2. Diagnostic exams If any abnormalities are discovered withinside the being pregnant screening exams, diagnostic exams are achieved to affirm the analysis of Down syndrome.
    Chromosome Analysis, Chorionic villus - In this test, cells are taken from the placenta and used to research the fetal chromosomes.
    The presence of a further chromosome 21 confirms the analysis of Down syndrome.
    Amniocentesis - During the second one trimester of being pregnant, the evaluation of fluid acquired from the amniotic sac surrounding the infant can assist become aware of the opportunity of a infant being born with Down syndrome.

    3. Supportive exams There are severa comorbidities which could have an effect on someone with Down syndrome.
    A few exams are vital to assist examine those comorbidities.
    Echocardiography - to discover congenital cardiac abnormalities, which can be very not unusualplace in toddlers with Down syndrome.
    Thyroid Profile Total- pretty frequently it's miles visible that people who've Down syndrome additionally be afflicted by hypothyroidism.
    It is vital to diagnose the opportunity of hypothyroidism and deal with it.
    Vitamin D (25-OH) - the musculoskeletal machine of sufferers with Down syndrome is vulnerable and poorly developed.
    The affected person may be afflicted by Vitamin D deficiency.
    USG Whole Abdomen - a few sufferers with Down syndrome be afflicted by gastrointestinal problems like intestinal obstruction, perforation, or GERD.
    If the affected person famous this sort of signs and symptoms, it's miles vital to assess the reason the use of ultrasound of the entire abdomen.
    Complete Blood Count (CBC) - withinside the early weeks of existence, new child toddlers with Down syndrome be afflicted by impaired blood counts.
    Individuals with Down syndrome also are greater susceptible to increase leukemia.
    Hence, habitual CBC exams can assist become aware of any blood-associated abnormalities in time.

    Prevention of Down syndrome

    As such, there's no manner to save you Down syndrome.
    However, early thought earlier than the age of 35 reduces the danger of a infant being born with this situation.
    Genetic counseling can also additionally assist the instances in which the danger of a infant being born with this syndrome is excessive.

    Routine antenatal proffile (being pregnant-associated) screening exams assist become aware of the situation as early because the first trimester of being pregnant.
    Awareness concerning antenatal exams can assist mother and father make knowledgeable selections approximately the being pregnant and its headaches.

    Specialist To Visit for Down syndrome

    Usually, Down syndrome is detected at some point of being pregnant through an obstetrician or at beginning through a neonatologist.
    Sometimes, the analysis won't be picked up early and the kid can be identified with Down syndrome at some point of habitual visits to the physician.
    Usually, a infant with Down syndrome might be cared for through a group of professional medical doctors.
    These medical doctors include:
    Child Specialist Pediatric Cardiologist Pediatric Neurologist Bone & Joint Specialist Gastroenterologist Genetic Counsellor Physiotherapist

    Treatments for Down syndrome

    Currently, there aren't anyt any authorized medication remedies for the remedy of Down syndrome.
    Medical remedy is pushed symptomatically primarily based totally at the comorbidities affecting the individual.
    For instance thyroid medicines to manipulate Hypothyroidism, Vitamin D dietary supplements for Vitamin D deficiency, analgesics to offer ache relief, corrective surgical procedure for congenital coronary heart defects and intestinal defects, etc.

    1. Alternative remedies These shape the maximum essential a part of coping with Down syndrome.
    As the disorder is congenital and impairs the person's highbrow and developmental abilities, it's miles vital that supportive take care of the kid starts offevolved as quickly as feasible.
    This will assist the kid lead a reasonably regular, effective existence.

    2. Physiotherapy and occupational remedy Physiotherapy and occupational remedy assist the kid reap developmental milestones, like walking, hand gripping, balancing, etc.
    , thru custom designed workout packages.
    These workout packages also can assist take care of the bones & joints and save you worsening of the musculoskeletal machine.

    3. Speech remedy Speech remedy and voice modulation sporting events are vital as they assist the kid talk effectively.
    Learning to talk properly is a totally essential thing of the social improvement of a infant stricken by Down syndrome.

    four.
    Life competencies education A infant with Down syndrome frequently desires specialised existence competencies education in sync together along with his or her degree of functioning.
    There are assist businesses and unique colleges to be had to assist the kid examine vital existence competencies, inclusive of self-care and grooming, number one education, decision-making, etc.
    This allows the kid develop right into a incredibly regular-functioning grownup who can lead a effective existence.

    Down syndrome

    Home Care for Down syndrome

    Educating oneself concerning the signs and symptoms and disorder development of Down syndrome is vital for the discern or caregivers.
    A infant with Down syndrome would require remedy with a multidisciplinary technique that improves their bodily and highbrow capabilities.

    Children with Down syndrome frequently want unique interest at school.
    There are unique lessons and packages to be had for kids and adults with Down syndrome.
    Also, near tracking for comorbidities, inclusive of cardiac headaches, imaginative and prescient abnormalities, gastrointestinal issues, bone and joint pains, etc.
    , want to be addressed as and after they begin affecting the individual.

    With true remedy opportunities, sufferers with Down syndrome can lead pretty regular lives with progressed existence expectancy.

    Complications of Down syndrome

    Down syndrome frequently provides with a bunch of different fitness situations and, if left untreated, can also additionally pose a extreme fitness danger.
    Certain headaches can also additionally stand up while Down syndrome is left untreated inclusive of:
    The incapability of the kid to feature generally withinside the community Cardiac headaches, a outcome of congenital coronary heart defects, frequently found in a infant with Down syndrome Weakened immune machine, main to a better danger of great infections Obesity because of loss of bodily activity Sleep apnea, a respiratory sickness that takes place whilst sleeping Skeletal malformations Poor imaginative and prescient and hearing Seizures

    Living With Down syndrome

    Infants born with Down syndrome are frequently subjected to social stigmas at a totally early age.
    They won't be capable of attend regular training or develop up like a ordinary infant.
    Parents or caregivers want to offer unique care and interest as the kid grows.
    Most youngsters with Down syndrome ought to develop like regular youngsters because of the appearance of severa advances in physiotherapy, occupational remedy, and different supportive treatments.





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